Journal article

The Light Skin Allele of SLC24A5 in South Asians and Europeans Shares Identity by Descent

Chandana Basu Mallick, Florin Mircea Iliescu, Mart Mols, Sarah Hill, Rakesh Tamang, Gyaneshwer Chaubey, Rie Goto, Simon YW Ho, Irene Gallego Romero, Federica Crivellaro, Georgi Hudjashov, Niraj Rai, Mait Metspalu, CG Nicholas Mascie-Taylor, Ramasamy Pitchappan, Lalji Singh, Marta Mirazon-Lahr, Kumarasamy Thangaraj, Richard Villems, Toomas Kivisild

PLoS Genetics | PUBLIC LIBRARY SCIENCE | Published : 2013


Skin pigmentation is one of the most variable phenotypic traits in humans. A non-synonymous substitution (rs1426654) in the third exon of SLC24A5 accounts for lighter skin in Europeans but not in East Asians. A previous genome-wide association study carried out in a heterogeneous sample of UK immigrants of South Asian descent suggested that this gene also contributes significantly to skin pigmentation variation among South Asians. In the present study, we have quantitatively assessed skin pigmentation for a largely homogeneous cohort of 1228 individuals from the Southern region of the Indian subcontinent. Our data confirm significant association of rs1426654 SNP with skin pigmentation, expla..

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University of Melbourne Researchers


Awarded by Tartu University

Awarded by ERC

Awarded by Estonian Basic Research grant

Awarded by European Commission

Awarded by Estonian Science Foundation

Awarded by UK-India Education Research Initiative

Funding Acknowledgements

This study was mainly supported by Tartu University grant (PBGMR06901) to TK and European Union European Regional Development Fund through the Centre of Excellence in Genomics to Estonian Biocentre and University of Tartu to RV, CBM, MMe, GH and GC. Other supporting funding sources were ERC Starting Investigator grant (FP7 - 261213) to TK; Estonian Basic Research grant SF0270177As08 to RV; European Commission grant (ECOGENE 205419) to MMe, GH and RV; Estonian Science Foundation grant (8973) to MMe and UK-India Education Research Initiative (RG47772) grant to MML, KT, TK, FMI, IGR and FC. SYWH was supported by the Australian Research Council. LS and KT were supported by the Council of Scientific and Industrial Research, Government of India. FMI was supported by a studentship from the Darwin Trust of Edinburgh. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.